ClinVar Miner

List of variants reported as pathogenic for Junctional epidermolysis bullosa gravis of Herlitz by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392 0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_000228.3(LAMB3):c.565-2A>G rs370148688 0.00003
NM_005562.3(LAMC2):c.1067-1G>A rs1558092501 0.00001
NM_198129.4(LAMA3):c.9511+1G>A rs1296034886 0.00001
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) rs753268823
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785

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